Canonical Allele Identifier: CA343676763

Gene: NCF2 SMG7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183574488C>T , CM000663.2:g.183574488C>T	GRCh38
NC_000001.10:g.183543623C>T , CM000663.1:g.183543623C>T	GRCh37
NC_000001.9:g.181810246C>T	NCBI36
NG_007267.1:g.21094G>A , LRG_88:g.21094G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000433.4:c.500G>A (NCF2) MANE Select	NP_000424.2:p.Trp167Ter
ENST00000367535.8:c.500G>A (NCF2) MANE Select	ENSP00000356505.4:p.Trp167Ter
NM_000433.3:c.500G>A , LRG_88t1:c.500G>A (NCF2)	NP_000424.2:p.Trp167Ter
NM_001127651.2:c.500G>A (NCF2)	NP_001121123.1:p.Trp167Ter
NM_001127651.3:c.500G>A (NCF2)	NP_001121123.1:p.Trp167Ter
NM_001190789.1:c.366+3111G>A (NCF2)	NP_001177718.1:n.366+3111G>A
NM_001190789.2:c.366+3111G>A (NCF2)	NP_001177718.1:n.366+3111G>A
NM_001190794.1:c.367-1196G>A (NCF2)	NP_001177723.1:n.367-1196G>A
NM_001190794.2:c.367-1196G>A (NCF2)	NP_001177723.1:n.367-1196G>A
ENST00000367535.7:c.500G>A (NCF2)	ENSP00000356505.3:p.Trp167Ter
ENST00000367536.5:c.500G>A (NCF2)	ENSP00000356506.1:p.Trp167Ter
ENST00000413720.5:c.367-1196G>A (NCF2)	ENSP00000399294.1:n.367-1196G>A
ENST00000418089.5:c.366+3111G>A (NCF2)	ENSP00000407217.1:n.366+3111G>A
ENST00000495321.1:n.234-23281C>T (SMG7)
ENST00000697329.1:n.420G>A (NCF2)
ENST00000697330.1:c.500G>A (NCF2)	ENSP00000513258.1:p.Trp167Ter
ENST00000697351.1:c.500G>A (NCF2)	ENSP00000513276.1:p.Trp167Ter
XM_005245207.1:c.500G>A (NCF2)	XP_005245264.1:p.Trp167Ter
XM_011509580.1:c.500G>A (NCF2)	XP_011507882.1:p.Trp167Ter
XM_011509581.1:c.500G>A (NCF2)	XP_011507883.1:p.Trp167Ter
XR_921801.1:n.704G>A (NCF2)